Linked Data
ClinVar Variation Id:
389196
ClinVar RCV Id:
RCV001698189
dbSNP Id:
rs1040009879
gnomAD v2:
1-244998979-C-T
gnomAD v3:
1-244835677-C-T
gnomAD v4:
1-244835677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244835677C>T , CM000663.2:g.244835677C>T | GRCh38 |
| NC_000001.10:g.244998979C>T , CM000663.1:g.244998979C>T | GRCh37 |
| NC_000001.9:g.243065602C>T | NCBI36 |
| NG_042825.1:g.5372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411948.7:c.-38C>T MANE Select | ENSP00000406327.2:n.-38C>T | |
| ENST00000366528.3:c.-38C>T | ENSP00000355486.3:n.-38C>T | |
| ENST00000391839.6:n.22C>T | ||
| ENST00000411948.6:c.-38C>T | ENSP00000406327.2:n.-38C>T | |
| ENST00000498262.1:n.19C>T | ||
| NM_001312871.1:c.-38C>T | NP_001299800.1:n.-38C>T | |
| NM_001312872.1:c.-38C>T | NP_001299801.1:n.-38C>T | |
| NM_001312873.1:c.-38C>T | NP_001299802.1:n.-38C>T | |
| NM_001312874.1:c.-38C>T | NP_001299803.1:n.-38C>T | |
| NM_198076.4:c.-38C>T | NP_932342.1:n.-38C>T | |
| NM_198076.5:c.-38C>T | NP_932342.1:n.-38C>T | |
| NR_132419.1:n.202C>T | ||
| NR_132420.1:n.202C>T | ||
| NR_132421.1:n.202C>T | ||
| NM_198076.6:c.-38C>T MANE Select | NP_932342.1:n.-38C>T |